Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females.

[fabry disease]

Fabry disease (FD ) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency ; in contrast to other X-linked diseases , heterozygous females can be as affected as men . The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis , establishment of inheritance pattern , and early detection of potentially affected relatives . The present study highlights the importance of pedigree analysis in families with FD for identifying other possibly affected relatives and investigating the clinical manifestations . This clinical report included 12 Mexican index cases with confirmed FD diagnosis . We constructed and analyzed their pedigree , and diagnosed FD in 24 affected relatives . Clinical features were similar to those reported for other populations . Pedigree analysis further identified an additional 30 women as possible carriers . We conclude that pedigree construction and analysis is a useful tool to help physicians detect and diagnose relatives at risk for FD , particularly heterozygous females , so that they can receive genetic counseling and early treatment . Mexican families with FD were similar to other populations reported in the literature , and our findings confirmed that heterozygous females can have signs and symptoms ranging from subtle manifestations to the classical severe presentation described in males .